retinal rod cell degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane (Mammalian Phenotype Ontology, MP_0008451)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008451
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Genes

17 gene mutations causing the retinal rod cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
ELOVL4 ELOVL fatty acid elongase 4
GJA10 gap junction protein, alpha 10, 62kDa
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MERTK MER proto-oncogene, tyrosine kinase
MYO7A myosin VIIA
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
RHO rhodopsin
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator